Incidental Mutation 'R0682:Tnni3k'
| ID |
60998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnni3k
|
| Ensembl Gene |
ENSMUSG00000040086 |
| Gene Name |
TNNI3 interacting kinase |
| Synonyms |
Cark, D830019J24Rik |
| MMRRC Submission |
038867-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.254)
|
| Stock # |
R0682 (G1)
|
| Quality Score |
126 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
154491928-154761044 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 154645665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 470
(S470P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064076]
[ENSMUST00000143410]
|
| AlphaFold |
Q5GIG6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064076
AA Change: S470P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070561
Gene: ENSMUSG00000040086
AA Change: S470P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
21 |
49 |
N/A |
INTRINSIC |
|
ANK
|
66 |
96 |
9.46e1 |
SMART |
|
ANK
|
100 |
129 |
4.43e-2 |
SMART |
|
ANK
|
133 |
162 |
3.15e-7 |
SMART |
|
ANK
|
166 |
195 |
6.12e-5 |
SMART |
|
ANK
|
199 |
229 |
1.65e-1 |
SMART |
|
ANK
|
233 |
264 |
6.07e0 |
SMART |
|
ANK
|
268 |
299 |
8.99e-3 |
SMART |
|
ANK
|
303 |
334 |
1.19e-2 |
SMART |
|
ANK
|
338 |
367 |
7.76e-7 |
SMART |
|
ANK
|
380 |
409 |
2.43e1 |
SMART |
|
Pfam:Pkinase
|
462 |
718 |
6.7e-48 |
PFAM |
|
Pfam:Pkinase_Tyr
|
462 |
718 |
2.1e-59 |
PFAM |
|
low complexity region
|
727 |
750 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143410
AA Change: S470P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122478
Gene: ENSMUSG00000040086
AA Change: S470P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
21 |
49 |
N/A |
INTRINSIC |
|
ANK
|
66 |
96 |
9.46e1 |
SMART |
|
ANK
|
100 |
129 |
4.43e-2 |
SMART |
|
ANK
|
133 |
162 |
3.15e-7 |
SMART |
|
ANK
|
166 |
195 |
6.12e-5 |
SMART |
|
ANK
|
199 |
229 |
1.65e-1 |
SMART |
|
ANK
|
233 |
264 |
6.07e0 |
SMART |
|
ANK
|
268 |
299 |
8.99e-3 |
SMART |
|
ANK
|
303 |
334 |
1.19e-2 |
SMART |
|
ANK
|
338 |
367 |
7.76e-7 |
SMART |
|
ANK
|
380 |
409 |
2.43e1 |
SMART |
|
Pfam:Pkinase
|
462 |
674 |
3.5e-48 |
PFAM |
|
Pfam:Pkinase_Tyr
|
462 |
674 |
3.6e-52 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the MAP kinase kinase kinase (MAPKKK) family of protein kinases. The protein contains ankyrin repeat, protein kinase and serine-rich domains and is thought to play a role in cardiac physiology. [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for a conditional allele activated in cardiac myocytes exhibit decreased response to cardiac ischemic/reperfusion injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
T |
C |
5: 146,121,650 (GRCm39) |
H83R |
probably benign |
Het |
| Abcd3 |
A |
C |
3: 121,563,216 (GRCm39) |
I471S |
possibly damaging |
Het |
| Abcg1 |
G |
A |
17: 31,330,225 (GRCm39) |
V509I |
probably benign |
Het |
| Adamts9 |
A |
T |
6: 92,880,783 (GRCm39) |
N497K |
possibly damaging |
Het |
| Agap2 |
A |
G |
10: 126,919,351 (GRCm39) |
S479G |
unknown |
Het |
| Asic2 |
T |
C |
11: 80,777,506 (GRCm39) |
I402V |
possibly damaging |
Het |
| Atp1a2 |
G |
A |
1: 172,112,164 (GRCm39) |
T577I |
probably benign |
Het |
| Atraid |
T |
A |
5: 31,209,612 (GRCm39) |
I92K |
probably damaging |
Het |
| Dpp10 |
C |
A |
1: 123,832,852 (GRCm39) |
A31S |
probably damaging |
Het |
| Erich6 |
A |
T |
3: 58,544,232 (GRCm39) |
F118L |
probably benign |
Het |
| Galnt18 |
T |
C |
7: 111,119,222 (GRCm39) |
Y418C |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,389,263 (GRCm39) |
C3927S |
possibly damaging |
Het |
| Ifit2 |
G |
A |
19: 34,551,012 (GRCm39) |
R184H |
probably benign |
Het |
| Kif24 |
A |
T |
4: 41,428,620 (GRCm39) |
N113K |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,185,653 (GRCm39) |
Y1354F |
probably benign |
Het |
| Muc1 |
T |
A |
3: 89,138,439 (GRCm39) |
I427N |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,359,406 (GRCm39) |
T1288A |
possibly damaging |
Het |
| Or7g32 |
C |
A |
9: 19,388,645 (GRCm39) |
M300I |
probably benign |
Het |
| Or9i14 |
C |
T |
19: 13,792,501 (GRCm39) |
C151Y |
possibly damaging |
Het |
| Pex26 |
T |
A |
6: 121,161,363 (GRCm39) |
V47E |
probably damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,355,436 (GRCm39) |
I871V |
probably damaging |
Het |
| Rasal2 |
A |
G |
1: 157,006,779 (GRCm39) |
S111P |
probably damaging |
Het |
| Rnf133 |
A |
T |
6: 23,649,569 (GRCm39) |
I163N |
probably damaging |
Het |
| Rrp8 |
A |
C |
7: 105,383,218 (GRCm39) |
D349E |
probably damaging |
Het |
| Sdhd |
G |
T |
9: 50,511,905 (GRCm39) |
Q38K |
probably benign |
Het |
| Ssh1 |
C |
T |
5: 114,098,718 (GRCm39) |
S117N |
probably damaging |
Het |
| Tbc1d2b |
A |
G |
9: 90,131,915 (GRCm39) |
M148T |
probably benign |
Het |
| Tnr |
C |
T |
1: 159,679,877 (GRCm39) |
Q284* |
probably null |
Het |
| Trim30a |
A |
C |
7: 104,078,389 (GRCm39) |
V229G |
probably damaging |
Het |
| Trim43a |
G |
A |
9: 88,464,199 (GRCm39) |
E37K |
probably benign |
Het |
| U2surp |
C |
T |
9: 95,366,496 (GRCm39) |
V470I |
probably benign |
Het |
| Uck2 |
T |
C |
1: 167,064,259 (GRCm39) |
D90G |
probably damaging |
Het |
| Vmn1r229 |
A |
T |
17: 21,034,950 (GRCm39) |
E65V |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,038,129 (GRCm39) |
E568G |
probably damaging |
Het |
| Whamm |
A |
G |
7: 81,235,886 (GRCm39) |
E363G |
probably damaging |
Het |
| Wrap53 |
A |
G |
11: 69,453,272 (GRCm39) |
S390P |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,757,848 (GRCm39) |
S814P |
probably benign |
Het |
| Zfp329 |
A |
G |
7: 12,544,211 (GRCm39) |
C438R |
probably damaging |
Het |
| Zkscan8 |
T |
C |
13: 21,710,930 (GRCm39) |
Y60C |
probably damaging |
Het |
|
| Other mutations in Tnni3k |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00655:Tnni3k
|
APN |
3 |
154,760,192 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00852:Tnni3k
|
APN |
3 |
154,760,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01090:Tnni3k
|
APN |
3 |
154,645,320 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01593:Tnni3k
|
APN |
3 |
154,646,666 (GRCm39) |
splice site |
probably null |
|
|
IGL01724:Tnni3k
|
APN |
3 |
154,645,263 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01887:Tnni3k
|
APN |
3 |
154,580,824 (GRCm39) |
splice site |
probably null |
|
|
IGL01992:Tnni3k
|
APN |
3 |
154,667,663 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02945:Tnni3k
|
APN |
3 |
154,743,075 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02990:Tnni3k
|
APN |
3 |
154,663,395 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03069:Tnni3k
|
APN |
3 |
154,647,242 (GRCm39) |
splice site |
probably null |
|
|
IGL03325:Tnni3k
|
APN |
3 |
154,667,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03405:Tnni3k
|
APN |
3 |
154,498,404 (GRCm39) |
splice site |
probably benign |
|
|
R0211:Tnni3k
|
UTSW |
3 |
154,760,981 (GRCm39) |
start gained |
probably benign |
|
|
R0693:Tnni3k
|
UTSW |
3 |
154,667,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0907:Tnni3k
|
UTSW |
3 |
154,647,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1109:Tnni3k
|
UTSW |
3 |
154,498,414 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1180:Tnni3k
|
UTSW |
3 |
154,581,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1181:Tnni3k
|
UTSW |
3 |
154,581,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1476:Tnni3k
|
UTSW |
3 |
154,735,942 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1496:Tnni3k
|
UTSW |
3 |
154,645,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1687:Tnni3k
|
UTSW |
3 |
154,645,263 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1704:Tnni3k
|
UTSW |
3 |
154,533,145 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1913:Tnni3k
|
UTSW |
3 |
154,684,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2343:Tnni3k
|
UTSW |
3 |
154,644,466 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2374:Tnni3k
|
UTSW |
3 |
154,492,422 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2869:Tnni3k
|
UTSW |
3 |
154,644,387 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2869:Tnni3k
|
UTSW |
3 |
154,644,387 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2871:Tnni3k
|
UTSW |
3 |
154,644,387 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2871:Tnni3k
|
UTSW |
3 |
154,644,387 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2872:Tnni3k
|
UTSW |
3 |
154,644,387 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2872:Tnni3k
|
UTSW |
3 |
154,644,387 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2873:Tnni3k
|
UTSW |
3 |
154,644,387 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4858:Tnni3k
|
UTSW |
3 |
154,492,445 (GRCm39) |
splice site |
probably null |
|
|
R5597:Tnni3k
|
UTSW |
3 |
154,577,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5806:Tnni3k
|
UTSW |
3 |
154,533,248 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5871:Tnni3k
|
UTSW |
3 |
154,736,007 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6467:Tnni3k
|
UTSW |
3 |
154,674,922 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6475:Tnni3k
|
UTSW |
3 |
154,646,695 (GRCm39) |
nonsense |
probably null |
|
|
R6882:Tnni3k
|
UTSW |
3 |
154,663,357 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6976:Tnni3k
|
UTSW |
3 |
154,498,413 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6986:Tnni3k
|
UTSW |
3 |
154,667,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7207:Tnni3k
|
UTSW |
3 |
154,580,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7539:Tnni3k
|
UTSW |
3 |
154,667,668 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7843:Tnni3k
|
UTSW |
3 |
154,744,161 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8546:Tnni3k
|
UTSW |
3 |
154,498,444 (GRCm39) |
missense |
probably benign |
|
|
R8787:Tnni3k
|
UTSW |
3 |
154,645,691 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9011:Tnni3k
|
UTSW |
3 |
154,562,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9031:Tnni3k
|
UTSW |
3 |
154,744,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9098:Tnni3k
|
UTSW |
3 |
154,647,314 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9616:Tnni3k
|
UTSW |
3 |
154,667,724 (GRCm39) |
nonsense |
probably null |
|
|
R9655:Tnni3k
|
UTSW |
3 |
154,645,410 (GRCm39) |
nonsense |
probably null |
|
|
R9733:Tnni3k
|
UTSW |
3 |
154,562,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Tnni3k
|
UTSW |
3 |
154,645,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tnni3k
|
UTSW |
3 |
154,744,194 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCACGTCTGACTTGGAGCAGTAG -3'
(R):5'- AGGCACCTTTGGTAGAGCATGTCC -3'
Sequencing Primer
(F):5'- GCTGACGATGCAATTCATCTG -3'
(R):5'- GCATGTCCATTGTGTATTTATAGCC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation